Found: 14
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1355962
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- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
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- Publication type:
- journal article
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442
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- Article
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
- Published in:
- 2021
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- Publication type:
- journal article
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
- Published in:
- Nutrients, 2021, v. 13, n. 1, p. 134, doi. 10.3390/nu13010134
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- Article
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
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- Article
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 21, doi. 10.1007/s10545-013-9624-0
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- Article
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 7, doi. 10.1007/s10545-012-9485-y
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- Article
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
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- Article
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
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- Wiener Klinische Wochenschrift, 2010, v. 122, n. 21/22, p. 607, doi. 10.1007/s00508-010-1457-3
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- Article
Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background.
- Published in:
- Wiener Klinische Wochenschrift, 2005, v. 117, n. 15/16, p. 541, doi. 10.1007/s00508-005-0327-x
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- Article
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
- Published in:
- 2001
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- Publication type:
- journal article
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 237, doi. 10.1038/sj.ejhg.5200620
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- Publication type:
- Article
Mutation analysis in glycogen storage disease type 1 non-a.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 285, doi. 10.1007/s004390000371
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- Article